Canonical Allele Identifier: CA374121969

Gene: HSD17B3

Linked Data

• dbSNP Id: rs144809928
• gnomAD v2: 9-98997830-G-C
• gnomAD v4: 9-96235548-G-C
• MyVariant Identifiers: chr9:g.98997830G>C (hg19) ; chr9:g.96235548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235548G>C , CM000671.2:g.96235548G>C	GRCh38
NC_000009.11:g.98997830G>C , CM000671.1:g.98997830G>C	GRCh37
NC_000009.10:g.98037651G>C	NCBI36
NG_008157.1:g.71605C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.695C>G	ENSP00000364411.2:p.Pro232Arg
ENST00000375263.8:c.845C>G MANE Select	ENSP00000364412.3:p.Pro282Arg
ENST00000463517.2:n.2387C>G
ENST00000464104.6:n.1783C>G
ENST00000467499.6:c.*544C>G	ENSP00000498077.1:n.*544C>G
ENST00000494814.6:n.395C>G
ENST00000643789.1:c.3137C>G
ENST00000648146.1:c.983C>G	ENSP00000497238.1:n.983C>G
ENST00000648332.1:c.522C>G	ENSP00000497562.1:n.522C>G
ENST00000648799.1:c.737C>G
ENST00000650005.1:c.774C>G	ENSP00000498121.1:n.774C>G
ENST00000375262.3:c.695C>G	ENSP00000364411.2:p.Pro232Arg
ENST00000375263.7:c.845C>G	ENSP00000364412.3:p.Pro282Arg
ENST00000464104.5:n.698C>G
ENST00000467499.5:n.105C>G
ENST00000494814.5:n.404C>G
NM_000197.1:c.845C>G	NP_000188.1:p.Pro282Arg
XM_005251970.3:c.485C>G	XP_005252027.1:p.Pro162Arg
XM_011518618.1:c.845C>G	XP_011516920.1:p.Pro282Arg
XM_011518619.1:c.845C>G	XP_011516921.1:p.Pro282Arg
XM_011518620.1:c.737C>G	XP_011516922.1:p.Pro246Arg
NM_000197.2:c.845C>G MANE Select	NP_000188.1:p.Pro282Arg
XM_011518618.2:c.845C>G	XP_011516920.1:p.Pro282Arg
XM_011518619.2:c.845C>G	XP_011516921.1:p.Pro282Arg
XM_017014671.1:c.845C>G	XP_016870160.1:p.Pro282Arg
XM_017014672.1:c.845C>G	XP_016870161.1:p.Pro282Arg
XM_017014673.2:c.809C>G	XP_016870162.1:p.Pro270Arg
XM_017014674.1:c.737C>G	XP_016870163.1:p.Pro246Arg
XM_017014675.1:c.683C>G	XP_016870164.1:p.Pro228Arg
XM_017014677.1:c.485C>G	XP_016870166.1:p.Pro162Arg
XM_024447529.1:c.683C>G	XP_024303297.1:p.Pro228Arg
XR_002956778.1:n.3317C>G